Single nucleotide polymorphisms of intervertebral disc collagens and prospects for their correction

Abstract

The main functions of the intervertebral disc (IVD) are ensured by the reliable integration of three structures of the IVD: the annulus fibrosus (AF), the hydrated nucleus pulposus (NP) and the two cartilaginous end plates (CEP). All molecular components are involved in the integration of the three anatomical structures of the IVD, however, the most important biomechanical properties - resistance to rupture / stretching / shift, resistance to static axial loads are mostly determined by collagens.The unique properties of collagens depend on the amino acid sequence of the three alpha (α) chains, which, after spiralization and condensation, form the collagen molecule - tropocollagen. The amino acid sequence contains all the necessary information for spiralization, modification, secretion of tropocollagen, its processing, condensation into fibrils and fibers according to the self-assembly principle. Changes in the primary amino acid sequence, depending on the substitution itself and its localization, lead to disruption of the stages of tropocollagen formation, its extracellular processing, and condensation.Currently, most of the research is devoted to the study of polymorphisms in the genes of IVD collagen types I, II, IX and XI. Algorithms for using information about genetic polymorphisms of collagen genes are only being formed. Data on genetic variation are often conflicting. An important aspect is the homogeneity of the study group by age, ethnicity, gender, as well as by the type of degenerative changes. There is also insufficient data on the effect of polymorphism on the properties of the collagen molecule, which greatly complicates the creation of standards for therapeutic correction.This literature review is devoted to the consideration of new data on collagen genes polymorphisms, the impact of these polymorphisms on integrative relationships in IVD structures, as well as the prospects for the correction of genetic abnormalities.